You are using an outdated browser. Please upgrade your browser to improve your experience.
holoprosencephaly 9
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.
Uniprot Description A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110873
OMIM:610829
UMLS:C1835819
MONDO:0012563
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.